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Article

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.

Nature genetics - 1 Jun 2000

Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine A D, Bonafé J L, Wilkinson J, Taïeb A, Barrandon Y, Harper J I, de Prost Y, Hovnanian A

Abstract excerpt

We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critical role of SPINK5 in epidermal barrier function and immunity, and suggest a new pathway for high serum IgE levels and atopic manifestations.

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Topics

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Terminator

Share to Frameshift Mutation

Share to Genes, Recessive

Share to Proteinase Inhibitory Proteins, Secretory

Share to Serine Peptidase Inhibitor Kazal-Type 5

Share to Serine Proteinase Inhibitors

Source

Identifiers

PMID: 10835624
DOI: 10.1038/75977

Genes

SPINK5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.PMID 10835624Read ↗

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.Semantic proximity Read ↗

Netherton Syndrome: A Genotype-Phenotype Review.Semantic proximity Read ↗

Gene polymorphism in Netherton and common atopic disease.Semantic proximity Read ↗

Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.Semantic proximity Read ↗

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.Semantic proximity Read ↗

A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.Semantic proximity Read ↗

SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes.Semantic proximity Read ↗

A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.Semantic proximity Read ↗

Netherton Syndrome -- a therapeutic challenge in childhoodSemantic proximity Read ↗

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.Semantic proximity Read ↗

A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.Semantic proximity Read ↗

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.Semantic proximity Read ↗

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